ClinVar Miner

List of variants reported as uncertain significance for Dejerine-Sottas disease

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Total variants: 39
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HGVS dbSNP
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.244A>G (p.Ile82Val) rs1602348995
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro) rs940401899
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro) rs1597608086
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp) rs104894621
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile) rs1597608049
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro) rs863225027
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro) rs1597607967
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg) rs1597607967
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del) rs1597607920
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg) rs1597607651
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu) rs1597607638
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) rs879253954
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro) rs1597635666
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu) rs932803146
NM_000530.8(MPZ):c.123_125del (p.Val42del) rs1571820248
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.190_192del (p.Phe64del) rs1571819975
NM_000530.8(MPZ):c.234G>A (p.Ser78=)
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) rs1571819301
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del) rs1571818880
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.522_525del (p.Leu175fs) rs1571818114
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr) rs1571817201
NM_000530.8(MPZ):c.661_662dup (p.Met222fs) rs1571817197
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_020956.2(PRX):c.*1379C>T rs773009397
NM_020956.2(PRX):c.*2240C>T rs1469912467
NM_020956.2(PRX):c.*4523G>A rs138437458
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_181882.3(PRX):c.4330G>C (p.Glu1444Gln)

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